ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.776A>G (p.His259Arg)

gnomAD frequency: 0.00001  dbSNP: rs104894248
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992253 SCV001144383 pathogenic not provided 2020-06-17 criteria provided, single submitter clinical testing The frequency of this variant in the general population is consistent with pathogenicity. Predicted to have a damaging effect on the protein. This variant is statistically more frequent in affected individuals than in the general population and/or healthy controls. Assessment of experimental evidence suggests this variant results in abnormal protein function.
Genome-Nilou Lab RCV000009213 SCV001810482 pathogenic Hyperinsulinemic hypoglycemia, familial, 2 2021-07-22 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226642 SCV002505435 uncertain significance Maturity onset diabetes mellitus in young criteria provided, single submitter research Mutations in KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which may be responsive to oral sulfonylureas. It is also associated with Neonatal Diabetes. However, no sufficient evidence is found to ascertain the role of rs104894248 variant in MODY yet.
Mendelics RCV002247279 SCV002516597 pathogenic Type 2 diabetes mellitus 2022-05-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV002247279 SCV004198055 likely pathogenic Type 2 diabetes mellitus 2023-08-29 criteria provided, single submitter clinical testing
OMIM RCV000009213 SCV000029431 pathogenic Hyperinsulinemic hypoglycemia, familial, 2 2005-09-01 no assertion criteria provided literature only

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